Works matching IS 09646906 AND DT 1992 AND VI 1 AND IP 9

Results: 38

Author Index.

Published in:: Human Molecular Genetics, 1992, v. 1, n. 9, p. 791
Publication type:: Article

Subject Index.

Published in:: Human Molecular Genetics, 1992, v. 1, n. 9, p. 785
Publication type:: Article

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 784

By:

Kuwano, A.;
Mutirangura, A.;
Dittrich, B.;
Buiting, K.;
Horsthemke, B.;
Saitoh, S.;
Niikawa, N.;
Ledbetter, S.A.;
Greenberg, F.;
Chinault, A.C.;
Ledbetter, D.H.

Publication type:

Article

Author index.

Published in:: Human Molecular Genetics, 1992, v. 1, n. 9, p. 783
Publication type:: Article

A common EcoRI polymorphism at the ZFX locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 782

By:

Ellison, Jay;
Alles, Catherine;
Shapiro, Larry

Publication type:

Article

Dinucleotide repeat polymorphism at the D21S219 locus which flanks the GARS-AIRS-GART gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 782

By:

Goto, J.;
Figlewicz, D.A.;
Gnirke, A.;
Khodr, N.;
Krizus, A.;
Rouleau, G.A.

Publication type:

Article

PCR detection of a dinucleotide repeat in the human histidine-rich glycoprotein (HRG) gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 781

By:

Hennis, B.C.;
Havelaar, A.C.;
Kluft, C.

Publication type:

Article

An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 781

By:

Rogaev, E.;
Rogaeva, E.;
Lukiw, W.J.;
Vaula, G.;
Liang, Y.;
Hancock, R.;
McLachlan, D.Crapper;
St George-Hyslop, P.H.

Publication type:

Article

Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 780

By:

Wang, Y.;
Sadler, L.;
Hecht, J.T.

Publication type:

Article

Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 780

By:

Zhang, Z.P.;
Deng, L.P.;
Blombäck, M.;
Anvret, M.

Publication type:

Article

Dinucleotide repeat polymorphism at the D18S74E locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 779

By:

Polymeropoulos, Mihael H.;
Xiao, Hong;
Merril, Carl R.

Publication type:

Article

Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 779

By:

Mills, Kathleen A.;
Even, DeeAnn;
Murray, Jeffray C.

Publication type:

Article

An Rsal polymorphism in the human serotonin receptor gene (HTR1A): detection by DGGE and RFLP analysis.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 778

By:

Warren, James T.;
Michael, L.Peacock;
Fink, John K.

Publication type:

Article

Dinucleotide repeat polymorphism at the DXS559 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 778

By:

Roustan, P.;
Curtis, A.R.J.;
Kamakari, S.;
Thiselton, D.;
Lindsay, S.;
Bhattacharya, S.S.

Publication type:

Article

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 777

By:

Decker, Ruth A.;
Ponder, Bruce A.;
Mole, Sara E.;
Weber, James L.

Publication type:

Article

Two dinucleotide repeat polymorphisms at the DXS571 locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 776

By:

Curtis, A.R.J.;
Roustan, P.;
Kamakari, S.;
Thiselton, D.;
Lindsay, S.;
Bhattacharya, S.S.

Publication type:

Article

CCG repeat polymorphism at the c-Ha-ras oncogene locus.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 775

By:

Riggins, Gregory J.;
Lokey, Laurie K.;
Warren, Stephen T.

Publication type:

Article

A highly polymorphic polypurine sequence on chromosome 8 (D8S210).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 774

By:

Brereton, Helen M.;
Turner, David R.;
Firgaira, Frank A.;
Ruffin, Richard E.

Publication type:

Article

Four dinucleotide repeat polymorphisms on human chromosome 16 at D16S289, D16S318, D16S319 and D1 6S320.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 773

By:

Shen, Y.;
Thompson, A.T.;
Holman, K.;
Callen, D.F.;
Sutherland, G.R.;
Richards, R.I.

Publication type:

Article

Autosomal dominant Retinitis Pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 769

By:

Farrar, G.J.;
Findlay, J.B.C.;
Kumar-Singh, R.;
Kenna, P.;
Humphries, M.M.;
Sharpe, E.;
Humphries, P.

Publication type:

Article

A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 767

By:

Zhang, Z.P.;
Falk, G.;
Blombäck, M.;
Egberg, N.;
Anveret, M.

Publication type:

Article

A new PKU mutation associated with haplotype 12.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 765

By:

Desviat, Lourdes R.;
Pérez, Belén;
Ugarte, Magdalena

Publication type:

Article

A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 763

By:

Jeruzelska, Jadwiga;
Melle, Dominique;
Matuszak, Renata;
Borski, Krzysztof;
Munnich, Arnold

Publication type:

Article

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 759

By:

Fernandes, Maria;
Kaplan, Feige;
Natowicz, Marvin;
Prence, Elizabeth;
Kolodny, Edwin;
Kaback, Michael;
Hachtman, Peter

Publication type:

Article

Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 755

By:

Crotty, Paul L.;
Braun, Stephen E.;
Anderson, Rose Ann;
Whitley, Chester B.

Publication type:

Article

The putative centromere-forming sequence λCM8 is a single copy sequence and is not a component of most human centrnmeres.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 753

By:

Cooper, Katrina F.;
Tyler-Smith, Chris

Publication type:

Article

λCM8, a human sequence with putative centromeric function, does not map to the centromere but is present in one to two copies at 9qter.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 749

By:

McGill, Niolette I.;
Fantes, Judith;
Cooke, Howard

Publication type:

Article

Microdissection of a human marker chromosome reveals its origin and a new family of centromeric repetitive DNA.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 741

By:

Johnson, Daniel H.;
Kroisel, Peter M.;
Klapper, Helene J.;
Rosenkranz, Walter

Publication type:

Article

Molecular isolation and characterization of an expressed gene from the human Y chromosome.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 717

By:

Zhang, Julie S.;
Yang-Feng, Teresa L.;
Muller, Ulrich;
Mohandas, T.K.;
de Jong, Pieter J.;
Lau, Yan-Fai Chris

Publication type:

Article

High frequencies in African and non-African populations of independent mutations in the mannose binding protein gene.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 709

By:

Lipscombe, R.J.;
Sumiya, M.;
Hill, A.V.S.;
Lau, Y.L.;
Levinsky, R.J.;
Summerfield, J.A.;
Turner, M.W.

Publication type:

Article

Cloning and characterization of an interstitial deletion at chromosome 11p15 in a sporadic breast cancer.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 705

By:

Miyagi, Mutsuko;
Inazawa, Johji;
Takita, Ken-ichi;
Nakamura, Yusuke

Publication type:

Article

A novel G protein-coupled receptor kinase gene cloned from 4p16.3.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 697

By:

Ambrose, Christine;
James, Marianne;
Barnes, Glenn;
Lin, Carol;
Bates, Gillian;
Altherr, Michael;
Duyao, Mabel;
Groot, Nicolet;
Church, Deanna;
Wasmuth, John J.;
Lehrach, Hans;
Housman, David;
Buckler, Alan;
Gusella, James F.;
MacDonald, Marcy E.

Publication type:

Article

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 685

By:

Stone, Edwin M.;
Kimura, Alan E.;
Folk, James C.;
Bennett, Steven R.;
Nichols, Brian E.;
Streb, Luan M.;
Sheffield, Val C.

Publication type:

Article

Serotonin receptor 1c gene assigned to X chromosome in human (band q24) and mouse (bands D-F4).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 681

By:

Milatovich, Athena;
Hsieh, Chih-Lin;
Bonaminio, Giulia;
Tecott, Larry;
Francke, Uta

Publication type:

Article

Human apurinic endonuclease gene (APE): structure and genomic mapping (chromosome 1 4q11.2 – 12).

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 677

By:

Harrison, Lynn;
Ascione, Gian;
Menninger, John C.;
Ward, David C.;
Demple, Bruce

Publication type:

Article

Cloning and mapping of the α-adducin gene close to D4S95 and assessment of its relationship to Huntington disease.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 669

By:

Goldberg, Y.P.;
Lin, B.-Y.;
Andrew, S.E.;
Nasir, J.;
Graham, R.;
Glaves, M.L.;
Hutchinson, G.;
Theilmann, J.;
Ginzinger, D.G.;
Schappert, K.;
Clarke, L.;
Rommens, J.M.;
Hayden, M.R.

Publication type:

Article

Centromeres-primary constrictions are primarily complicated.

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 667

By:

Willard, Huntington F.

Publication type:

Article

La carte des microsatellites est arrivée!

Published in:

Human Molecular Genetics, 1992, v. 1, n. 9, p. 663

By:

Todd, John A.

Publication type:

Article